Variant report

Variant	rs4687553
Chromosome Location	chr3:51550653-51550654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10510757	0.84[ASN][1000 genomes]
rs10510758	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12485610	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12486568	1.00[EUR][1000 genomes]
rs12487426	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12487468	0.86[ASN][1000 genomes]
rs12489414	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12490471	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12490889	0.87[ASN][1000 genomes]
rs12491048	0.88[ASN][1000 genomes]
rs12492624	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493265	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12493618	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12493857	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12493978	0.86[ASN][1000 genomes]
rs12494462	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12494979	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12496340	0.93[EUR][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13090348	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13324384	0.87[EUR][1000 genomes]
rs1370124	0.88[ASN][1000 genomes]
rs17051783	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17051811	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17661242	0.90[ASN][1000 genomes]
rs17712228	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2033703	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2082992	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2082993	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2217938	0.90[ASN][1000 genomes]
rs2241785	0.88[ASN][1000 genomes]
rs2304512	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2306430	0.86[ASN][1000 genomes]
rs2306431	0.87[ASN][1000 genomes]
rs2356261	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2356298	0.96[ASN][1000 genomes]
rs35536327	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3749317	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3792408	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3804766	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3828395	0.87[ASN][1000 genomes]
rs4468966	0.82[ASN][1000 genomes]
rs4687563	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687592	0.81[EUR][1000 genomes]
rs4687599	0.87[EUR][1000 genomes]
rs4687601	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4687605	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4687610	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687656	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687691	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687731	0.90[ASN][1000 genomes]
rs4687769	0.87[EUR][1000 genomes]
rs4687777	0.90[ASN][1000 genomes]
rs4687794	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687803	0.84[AMR][1000 genomes]
rs4687804	0.82[AMR][1000 genomes]
rs4687811	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687812	0.90[ASN][1000 genomes]
rs4687813	0.90[ASN][1000 genomes]
rs4974096	0.87[ASN][1000 genomes]
rs55667499	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55671465	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55706150	0.87[EUR][1000 genomes]
rs55872019	0.81[EUR][1000 genomes]
rs56239081	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56729479	0.96[ASN][1000 genomes]
rs57027950	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57047724	0.86[ASN][1000 genomes]
rs57603251	0.83[ASN][1000 genomes]
rs57831708	0.89[ASN][1000 genomes]
rs58059174	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58189274	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58201844	0.82[ASN][1000 genomes]
rs58568178	0.90[ASN][1000 genomes]
rs58762652	1.00[EUR][1000 genomes]
rs58836277	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59563413	0.85[ASN][1000 genomes]
rs59564034	1.00[EUR][1000 genomes]
rs59838596	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59953568	0.87[ASN][1000 genomes]
rs60007226	1.00[EUR][1000 genomes]
rs60606339	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61233013	0.93[ASN][1000 genomes]
rs61419317	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61689323	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72945708	0.85[ASN][1000 genomes]
rs72945713	0.88[ASN][1000 genomes]
rs72951443	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72951490	0.87[EUR][1000 genomes]
rs7375146	0.87[EUR][1000 genomes]
rs73834252	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73834253	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834254	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834258	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73834265	0.87[EUR][1000 genomes]
rs73837439	0.87[ASN][1000 genomes]
rs73837442	0.90[ASN][1000 genomes]
rs73837443	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs751076	0.82[ASN][1000 genomes]
rs7642698	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs880478	0.82[ASN][1000 genomes]
rs9817077	0.81[ASN][1000 genomes]
rs9817872	0.81[ASN][1000 genomes]
rs9819195	0.81[ASN][1000 genomes]
rs9820140	0.89[ASN][1000 genomes]
rs9827186	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9829057	0.82[ASN][1000 genomes]
rs9842600	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843583	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9856134	0.81[ASN][1000 genomes]
rs9861019	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51549000-51553400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:51549000-51553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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